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PALB2: A New Breast Cancer Gene

By Jenna Gross - September 10, 2014

You've probably heard of BRCA1 and BRCA2 when talking about breast cancer, but there's a new gene mutation you need to know about. The PALB2 mutation can increase a young woman's risk of developing breast cancer by 8 or 9 times, according to Women's Health Magazine and The New England Journal of Medicine.

(Photo: Women's Health Magazine)

In the University of Cambridge-led study, researchers examined data on 154 families, each with least one family member with breast cancer who tested negative for BRCA1 and BRCA2 mutations but did have a mutation in PALB2. Among all the family members studied, they identified 311 women with mutations in the PALB2 gene, which has been previously linked to breast cancer. However, no one knew exactly how much PALB2 mutations increased risk—until now.

Researchers found that women with PALB2 mutations had a 35 percent chance of developing breast cancer before their 70th birthday—and that risk rose to 58 percent if they had a strong family history of breast cancer (like a mother or sister being diagnosed with breast cancer before age 50). For comparison's sake, women with BRCA1 mutations have about a 50 to 70 percent risk of developing breast cancer by age 70, while those with BRCA2 mutations have a 40 to 60 percent risk, according to study researchers.

Plus, this research found that mutations in PALB2 are particularly associated with a larger increased risk of breast cancer in younger women. Researchers found that in women younger than 40, PALB2 mutations can lead to an eight- to nine-times higher risk of breast cancer, compared to women of that age without the mutation. Meanwhile, women aged 40-60 with the genetic mutation had a six- to eight-times greater risk of breast cancer than women aged 40-60 without it. And women over 60 with mutations in PALB2 had a five-times higher risk than women over 60 without the mutation. Essentially, the increased risk associated with the mutation was more extreme in younger women.